Skin diseases

• Aagenaes syndrome
• Aarskog syndrome
• Abdominal chemodectomas with cutaneous angiolipomas
• Absence of fingerprints congenital milia
• Acanthosis nigricans - Not a rare disease
• Acquired generalized lipodystrophy
• Acral peeling skin syndrome
• Acrodermatitis
• Acrodermatitis enteropathica
• Acrogeria, Gottron type
• Acrokeratoelastoidosis of Costa
• Actinic lichen planus
• Acute febrile neutrophilic dermatosis
• Acute intermittent porphyria
• Adams-Oliver syndrome
• Adiposis dolorosa
• ADULT syndrome
• Adult T-cell leukemia/lymphoma
• Ainhum
• Al-Gazali-Donnai-Mueller syndrome
• Albinism deafness syndrome
• Alkaptonuria
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia totalis
• Alopecia universalis
• Alopecia, epilepsy, pyorrhea, mental subnormality
• Alopecia-contractures-dwarfism-intellectual disability syndrome
• Alopecia-intellectual disability syndrome
• Ambras syndrome
• Ameloonychohypohidrotic syndrome
• Aminolevulinate dehydratase deficiency porphyria
• Amyopathic dermatomyositis
• Angioma serpiginosum
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Annular atrophic lichen planus
• Annular lichen planus
• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• Antecubital pterygium
• Aplasia cutis congenita
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplasia cutis congenita of limbs recessive
• AREDYLD
• Arterial tortuosity syndrome
• Arthrochalasia Ehlers-Danlos syndrome
• Arthrogryposis and ectodermal dysplasia
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
• Ataxia telangiectasia
• Atrophic lichen planus
• Atrophoderma of Pasini and Pierini
• Atrophoderma vermiculata
• Autoimmune progesterone dermatitis
• Autosomal dominant deafness-onychodystrophy syndrome
• Autosomal dominant hyper IgE syndrome
• Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal recessive candidiasis familial chronic mucocutaneous
• Autosomal recessive palmoplantar keratoderma and congenital alopecia
• Bannayan-Riley-Ruvalcaba syndrome
• Barber Say syndrome
• Barraquer-Simons syndrome
• Basaran Yilmaz syndrome
• Bazex-Dupre-Christol syndrome
• Beare-Stevenson cutis gyrata syndrome
• Becker nevus syndrome
• Becker's nevus
• Behçet disease
• Benign eccrine spiradenoma
• Biotinidase deficiency
• Birt-Hogg-Dube syndrome
• Bjornstad syndrome
• Blau syndrome
• Blepharo-cheilo-odontic syndrome
• Bloom syndrome
• Blue rubber bleb nevus syndrome
• Book syndrome
• Bork Stender Schmidt syndrome
• Brittle cornea syndrome
• Brunsting-Perry syndrome
• Bullous dystrophy hereditary macular type
• Buschke Ollendorff syndrome
• Campomelia Cumming type
• Cantu syndrome
• Cardiac-Valvular Ehlers-Danlos syndrome
• Cardiofaciocutaneous syndrome
• Cardiomyopathy dilated with woolly hair and keratoderma
• Carney complex
• Cartilage-hair hypoplasia
• Cerebellar ataxia ectodermal dysplasia
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
• Cerebro-oculo-facio-skeletal syndrome
• Cerebrotendinous xanthomatosis
• Cervical hypertrichosis peripheral neuropathy
• Chanarin-Dorfman syndrome
• Chediak-Higashi syndrome
• Cheilitis glandularis
• CHILD syndrome
• Chorea-acanthocytosis
• Chromhidrosis
• Chromosome 17q11.2 deletion syndrome
• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
• Chronic granulomatous disease
• Chronic recurrent multifocal osteomyelitis
• Circumferential skin creases Kunze type
• Classical-like Ehlers-Danlos syndrome
• Clouston syndrome
• CLOVES syndrome
• Cobb syndrome
• Cockayne syndrome type I
• Cockayne syndrome type II
• Cockayne syndrome type III
• COG7-CDG (CDG-IIe)
• Combined immunodeficiency with skin granulomas
• Congenital erythropoietic porphyria
• Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 4
• Corneodermatoosseous syndrome
• Corticosteroid-sensitive aseptic abscesses
• Costello syndrome
• Cowden syndrome
• Crandall syndrome
• Cranioectodermal dysplasia
• CREST syndrome
• Cronkhite-Canada disease
• Cutaneous collagenous vasculopathy
• Cutaneous mastocytoma
• Cutaneous polyarteritis nodosa
• Cutaneous sclerosis
• Cutis laxa, autosomal dominant
• Cutis laxa, autosomal recessive type 1
• Cutis marmorata telangiectatica congenita
• Cutis verticis gyrata
• Dahlberg Borer Newcomer syndrome
• Darier disease
• Deafness conductive ptosis skeletal anomalies
• Deafness enamel hypoplasia nail defects
• Deafness-lymphedema-leukemia syndrome
• Deficiency of interleukin-1 receptor antagonist
• Dermal eccrine cylindroma
• Dermatitis herpetiformis
• Dermatofibroma - Not a rare disease
• Dermatofibrosarcoma protuberans
• Dermatomyositis
• Dermatoosteolysis Kirghizian type
• Dermatopathia pigmentosa reticularis
• Dermatosparaxis Ehlers-Danlos syndrome
• Dermochondrocorneal dystrophy of François
• Dermoodontodysplasia
• Diffuse cutaneous systemic sclerosis
• Diffuse dermal angiomatosis
• Disseminated superficial actinic porokeratosis
• DOLK-CDG (CDG-Im)
• Dominant dystrophic epidermolysis bullosa
• DOOR syndrome
• Dowling-Degos disease
• Dubowitz syndrome
• Dykes Markes Harper syndrome
• Dyschromatosis symmetrica hereditaria 1
• Dyschromatosis universalis hereditaria
• Dyskeratosis congenita
• Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita autosomal recessive
• Dyskeratosis congenita X-linked
• Dystrophic epidermolysis bullosa
• Ectodermal dysplasia skin fragility syndrome
• Ectodermal dysplasia trichoodontoonychial type
• Ectodermal dysplasia with natal teeth Turnpenny type
• Ectodermal dysplasia, hidrotic, Christianson-Fourie type
• EEC syndrome
• EEM syndrome
• Ehlers-Danlos syndrome, dysfibronectinemic type
• Elastoderma
• Elastosis perforans serpiginosa
• Ellis-Van Creveld syndrome
• Encephalocraniocutaneous lipomatosis
• Eosinophilic pustular folliculitis
• Epidermodysplasia verruciformis
• Epidermolysa bullosa simplex with muscular dystrophy
• Epidermolysis bullosa
• Epidermolysis bullosa acquisita
• Epidermolysis bullosa simplex
• Epidermolysis bullosa simplex with mottled pigmentation
• Epidermolysis bullosa simplex, Dowling-Meara type
• Epidermolysis bullosa simplex, generalized
• Epidermolysis bullosa simplex, localized
• Epidermolysis bullosa simplex, Ogna type
• Epidermolysis bullosa, lethal acantholytic
• Epidermolytic ichthyosis
• Epidermolytic palmoplantar keratoderma
• Erdheim-Chester disease
• Erythema elevatum diutinum
• Erythema multiforme
• Erythema nodosum, idiopathic
• Erythrokeratoderma ''en cocardes''
• Erythrokeratodermia variabilis et progressiva
• Erythromelalgia
• Erythropoietic protoporphyria
• Erythropoietic uroporphyria associated with myeloid malignancy
• Extranodal nasal NK/T cell lymphoma
• Fabry disease
• Facial ectodermal dysplasia
• Familial atypical multiple mole melanoma syndrome - Not a rare disease
• Familial cold autoinflammatory syndrome
• Familial cutaneous collagenoma
• Familial cylindromatosis
• Familial dermographism
• Familial Dupuytren contracture - Not a rare disease
• Familial dysautonomia
• Familial joint instability syndrome
• Familial multiple lipomatosis
• Familial multiple trichodiscomas
• Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy type 2
• Familial partial lipodystrophy type Köbberling
• Familial reactive perforating collagenosis
• Familiar chronic mucocutaneous candidiasis - Not a rare disease
• Fanconi anemia
• Farber disease
• Febrile Ulceronecrotic Mucha-Habermann disease
• Fibrodysplasia ossificans progressiva
• Flynn Aird syndrome
• Focal dermal hypoplasia
• Focal facial dermal dysplasia
• Fox-Fordyce disease
• Frontal fibrosing alopecia
• Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
• GAPO syndrome
• Gardner syndrome
• Gardner-Diamond syndrome
• Gastrocutaneous syndrome
• Gaucher disease perinatal lethal
• Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
• Generalized pustular psoriasis
• Genuine diffuse phlebectasia
• Geroderma osteodysplastica
• Giant congenital nevus
• Gingival fibromatosis with hypertrichosis
• GM3 synthase deficiency
• Gorlin Chaudhry Moss syndrome
• Graham-Little-Piccardi-Lassueur syndrome
• Granuloma annulare
• Granulomatous rosacea
• Granulomatous slack skin disease
• Griscelli syndrome type 1
• Griscelli syndrome type 2
• Griscelli syndrome type 3
• Grover's disease - Not a rare disease
• Guttate psoriasis
• Hailey-Hailey disease
• Haim-Munk syndrome
• Hair defect-photosensitivity-intellectual disability syndrome
• Hairy elbows
• Halal Setton Wang syndrome
• Hallermann-Streiff syndrome
• Halo nevus
• Hard skin syndrome Parana type
• Harlequin ichthyosis
• Hartnup disease
• Hennekam syndrome
• Hepatoerythropoietic porphyria
• Hereditary coproporphyria
• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary hemorrhagic telangiectasia
• Hereditary hemorrhagic telangiectasia type 2
• Hereditary hemorrhagic telangiectasia type 3
• Hereditary hemorrhagic telangiectasia type 4
• Hereditary leiomyomatosis and renal cell cancer
• Hereditary lymphedema type II
• Hereditary mucoepithelial dysplasia
• Hereditary pancreatitis
• Hermansky Pudlak syndrome 2
• Hidradenitis suppurativa - Not a rare disease
• Histiocytosis-lymphadenopathy plus syndrome
• Holocarboxylase synthetase deficiency
• Hyaline fibromatosis syndrome
• Hydroa vacciniforme
• Hydroa vacciniforme, familial
• Hyper-IgD syndrome
• Hyperkeratosis lenticularis perstans
• Hypermobile Ehlers-Danlos syndrome
• Hypertrichosis lanuginosa, acquired
• Hypohidrotic ectodermal dysplasia
• Hypohidrotic ectodermal dysplasia autosomal recessive
• Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Hypomelanosis of Ito
• Hypotrichosis simplex
• Hypotrichosis-lymphedema-telangiectasia syndrome
• Ichthyosis alopecia eclabion ectropion mental retardation
• Ichthyosis bullosa of Siemens
• Ichthyosis cheek eyebrow syndrome
• Ichthyosis follicularis atrichia photophobia syndrome
• Ichthyosis hystrix, Curth Macklin type
• Ichthyosis lamellar 1
• Ichthyosis lamellar, autosomal dominant
• Ichthyosis prematurity syndrome
• Ichthyosis tapered fingers midline groove up
• Ichthyosis vulgaris
• Ichthyosis, acquired
• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
• Ichthyosis, mental retardation, dwarfism and renal impairment
• Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
• Incontinentia pigmenti
• Infantile myofibromatosis
• Inflammatory linear verrucous epidermal nevus
• Iridogoniodysgenesis type 1
• Isolated anterior cervical hypertrichosis
• Johanson-Blizzard syndrome
• Johnson neuroectodermal syndrome
• Junctional epidermolysis bullosa generalized intermediate - See Epidermolysis bullosa
• Junctional epidermolysis bullosa inversa - See Epidermolysis bullosa
• Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa
• Juvenile dermatomyositis
• Juvenile polyposis syndrome
• Keratoderma palmoplantar deafness
• Keratoderma palmoplantar spastic paralysis
• Keratoderma palmoplantaris transgrediens
• Keratolytic winter erythema
• Keratosis follicularis dwarfism and cerebral atrophy
• Keratosis follicularis spinulosa decalvans
• Keratosis palmoplantaris striata 1
• Keratosis palmoplantaris striata 3
• KID syndrome
• Kindler syndrome
• Klippel-Trenaunay syndrome
• Knuckle pads, leuconychia and sensorineural deafness
• Kohlschutter Tonz syndrome
• Kyphoscoliotic Ehlers-Danlos syndrome
• Kyrle disease
• Lacrimo-auriculo-dento-digital syndrome
• Lamellar ichthyosis
• Laryngoonychocutaneous syndrome - See Epidermolysis bullosa
• Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa
• Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
• Ledderhose disease
• Legius syndrome
• Lelis syndrome
• LEOPARD syndrome
• Leprechaunism
• Leukoencephalopathy palmoplantar keratoderma
• Leukonychia totalis
• Lichen planopilaris
• Lichen planus pemphigoides
• Lichen planus pigmentosus
• Lichen sclerosus
• Limb-mammary syndrome
• Limited cutaneous systemic sclerosis
• Limited systemic sclerosis
• Linear and whorled nevoid hypermelanosis
• Linear IgA disease
• Linear lichen planus
• Linear nevus sebaceous syndrome
• Linear scleroderma
• LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy
• Lipedema - Not a rare disease
• Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy
• Lipoid proteinosis of Urbach and Wiethe
• Lissencephaly 2
• Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
• Localized scleroderma
• Loose anagen hair syndrome
• Lupus erythematosus tumidus
• Lymphedema and cerebral arteriovenous anomaly
• Lymphedema-distichiasis syndrome
• Lymphocytic infiltrate of Jessner
• Lymphomatoid papulosis
• Macules hereditary congenital hypopigmented and hyperpigmented
• Maffucci syndrome
• Majeed syndrome
• Malignant Atrophic Papulosis
• Mandibuloacral dysplasia with type A lipodystrophy
• Mandibuloacral dysplasia with type B lipodystrophy
• Marie Unna congenital hypotrichosis
• Marshall syndrome
• McCune-Albright syndrome
• Megalencephaly-capillary malformation syndrome
• Meleda disease
• Melkersson-Rosenthal syndrome
• Menkes disease
• Merkel cell carcinoma
• Mevalonic aciduria
• Microcystic lymphatic malformation
• Microphthalmia with linear skin defects syndrome
• Milroy disease
• Monilethrix
• Morphea
• MPDU1-CDG (CDG-If)
• MPI-CDG (CDG-Ib)
• Muckle-Wells syndrome
• Mucopolysaccharidosis type III
• Mucous membrane pemphigoid
• Muir-Torre syndrome
• Multicentric reticulohistiocytosis
• Multiple café-au-lait spots
• Multiple familial trichoepithelioma
• Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma
• Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma
• Multiple fibrofolliculoma familial
• Multiple sulfatase deficiency
• Multiple symmetric lipomatosis
• Musculocontractural Ehlers-Danlos syndrome
• Naegeli syndrome
• Nail-patella syndrome
• Nakajo Nishimura syndrome
• Naxos disease
• Necrobiotic xanthogranuloma
• Nelson syndrome
• Neonatal Onset Multisystem Inflammatory disease
• Neonatal progeroid syndrome
• Nephrogenic Systemic Fibrosis
• Nestor-guillermo progeria syndrome
• Netherton syndrome
• Neu Laxova syndrome
• Neurocutaneous melanosis
• Neurofibromatosis-Noonan syndrome
• Nevoid basal cell carcinoma syndrome
• Nevus comedonicus syndrome
• Nevus of Ito
• Nodular nonsuppurative panniculitis
• Nonbullous congenital ichthyosiform erythroderma
• Noonan syndrome
• Noonan syndrome 1 - See Noonan syndrome
• Noonan syndrome 2 - See Noonan syndrome
• Noonan syndrome 3 - See Noonan syndrome
• Noonan syndrome 4 - See Noonan syndrome
• Noonan syndrome 5 - See Noonan syndrome
• Noonan syndrome 6 - See Noonan syndrome
• Noonan-like syndrome with loose anagen hair
• Occipital horn syndrome
• Oculocerebral syndrome with hypopigmentation
• Oculocutaneous albinism type 1
• Oculocutaneous albinism type 1B
• Oculocutaneous albinism type 2
• Oculocutaneous albinism type 3
• Oculodentodigital dysplasia
• Oculoectodermal syndrome
• Odonto onycho dysplasia with alopecia
• Odontomicronychial dysplasia
• Odontoonychodermal dysplasia
• Odontotrichomelic syndrome
• Oliver syndrome
• Olmsted syndrome
• Onychocytic matricoma
• Onychodystrophy-anonychia
• Orofaciodigital syndrome 1
• Pachydermoperiostosis
• Pachyonychia congenita
• Palmoplantar keratoderma
• Palmoplantar keratoderma-sclerodactyly syndrome
• Papillon Lefevre syndrome
• Parapsoriasis
• Parkes Weber syndrome
• Peeling skin syndrome
• PEHO syndrome
• Pemphigus vulgaris
• Periodontal Ehlers-Danlos syndrome
• Peutz-Jeghers syndrome
• Piebaldism
• Pigmented purpuric dermatosis
• Pili annulati
• Pili torti
• Pili torti developmental delay neurological abnormalities
• Pilodental dysplasia with refractive errors
• Pilomatrixoma
• Pinheiro Freire-Maia Miranda syndrome
• Pityriasis lichenoides
• Pityriasis lichenoides chronica
• Pityriasis lichenoides et varioliformis acuta
• Pityriasis rubra pilaris
• PMM2-CDG (CDG-Ia)
• Poikiloderma with neutropenia
• Popliteal pterygium syndrome, Bartsocas-Papas type
• Porokeratosis of Mibelli
• Porokeratosis, disseminated superficial actinic 1
• Porokeratosis, disseminated superficial actinic 2
• Porphyria cutanea tarda
• Pretibial epidermolysis bullosa
• Primary cutaneous amyloidosis
• Progeria
• Progeroid short stature with pigmented nevi
• Progeroid syndrome Petty type
• Progressive osseous heteroplasia
• Prolidase deficiency
• Proliferating trichilemmal cyst
• Proteus syndrome
• Proteus-like syndrome
• Pruritic urticarial papules plaques of pregnancy
• Pseudoainhum
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1C
• Pseudopelade of Brocq
• Pseudopseudohypoparathyroidism
• Pseudoxanthoma elasticum
• Punctate palmoplantar keratoderma type 2
• Punctate palmoplantar keratoderma type I
• Pustulosis palmaris et plantaris
• Pyoderma gangrenosum
• Pyogenic arthritis, pyoderma gangrenosum and acne
• Pyogenic granuloma - Not a rare disease
• Pyramidal molars-abnormal upper lip syndrome
• Quinquaud folliculitis decalvans
• Rabson-Mendenhall syndrome
• Recessive dystrophic epidermolysis bullosa-generalized other
• Red skin pigment anomaly of New Guinea
• Refsum disease
• Reynolds syndrome
• Rhabdomyomatous mesenchymal hamartoma
• Roch-Leri mesosomatous lipomatosis
• Rombo syndrome
• Rosai-Dorfman disease
• SAPHO syndrome
• Satoyoshi syndrome
• Scalp defects postaxial polydactyly
• Scalp ear nipple syndrome
• SCARF syndrome
• Schinzel Giedion syndrome
• Schwannomatosis
• Scleromyxedema
• Seborrheic keratosis - Not a rare disease
• Severe generalized recessive dystrophic epidermolysis bullosa
• Sezary syndrome
• SHORT syndrome
• Sjogren-Larsson syndrome
• Sjogren-Larsson-like syndrome
• Slow-channel congenital myasthenic syndrome
• Sneddon syndrome
• Spinocerebellar ataxia 34
• Spitz nevus
• Spondylodysplastic Ehlers-Danlos syndrome
• Spondyloepimetaphyseal dysplasia joint laxity
• SRD5A3-CDG (CDG-Iq)
• Steatocystoma multiplex
• Steatocystoma multiplex with natal teeth
• Stevens-Johnson syndrome/toxic epidermal necrolysis
• Stiff skin syndrome
• Stoll Alembik Finck syndrome
• Sturge-Weber syndrome
• Subcorneal pustular dermatosis
• Swyer syndrome
• Syringocystadenoma papilliferum
• Systemic scleroderma
• TARP syndrome
• Taurodontia, absent teeth, sparse hair syndrome
• Telfer Sugar Jaeger syndrome
• Temple-Baraitser syndrome
• Tietz syndrome
• Transient bullous dermolysis of the newborn
• Tricho-dento-osseous syndrome
• Trichodental syndrome
• Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
• Trichorhinophalangeal syndrome type 1
• Trichorhinophalangeal syndrome type 2
• Trichorhinophalangeal syndrome type 3
• Trichostasis spinulosa
• Trichothiodystrophy
• Tuberous sclerosis complex
• Tumor necrosis factor receptor-associated periodic syndrome
• Twenty-nail dystrophy
• Tylosis with esophageal cancer
• Tyrosinemia type 2
• Ulerythema ophryogenesis
• Uncombable hair syndrome
• UV sensitive syndrome
• Van Den Bosch syndrome
• Variegate porphyria
• Vascular Ehlers-Danlos syndrome
• Verrucous nevus acanthokeratolytic
• Vici syndrome
• Vitiligo - Not a rare disease
• Vohwinkel syndrome
• Waardenburg syndrome type 1
• Waardenburg syndrome type 2
• Waardenburg syndrome type 3
• Waardenburg syndrome type 4
• Wells syndrome
• Werner syndrome
• Weyers acrofacial dysostosis
• White sponge nevus of cannon
• Wiskott Aldrich syndrome
• Witkop syndrome
• Woolly hair hypotrichosis everted lower lip and outstanding ears
• Woolly hair syndrome
• Wrinkly skin syndrome
• Wyburn-Mason syndrome
• X-linked congenital generalized hypertrichosis
• X-linked dominant chondrodysplasia punctata 2
• X-linked hypohidrotic ectodermal dysplasia
• X-linked ichthyosis
• X-linked intellectual disability - short stature – obesity
• Xanthoma disseminatum
• Xeroderma pigmentosum
• Xeroderma pigmentosum, variant type
• Yellow nail syndrome
• Yemenite deaf-blind hypopigmentation syndrome
• Zlotogora syndrome

NIH genetic and rare disease info

• NIH info on Skin diseases

Skin diseases is a rare disease.